SERPINF1, serpin family F member 1, 5176

N. diseases: 294; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193302872
rs193302872
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C3279564
Disease:
Osteogenesis Imperfecta, Type VI 		G 0.700 CausalMutation CLINVAR
dbSNP: rs193302873
rs193302873
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C3279564
Disease:
Osteogenesis Imperfecta, Type VI 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122518
rs398122518
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C3279564
Disease:
Osteogenesis Imperfecta, Type VI 		G 0.700 CausalMutation CLINVAR
dbSNP: rs398122519
rs398122519
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C3279564
Disease:
Osteogenesis Imperfecta, Type VI 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs398122520
rs398122520
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C3279564
Disease:
Osteogenesis Imperfecta, Type VI 		G 0.700 CausalMutation CLINVAR
dbSNP: rs869312908
rs869312908
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C3279564
Disease:
Osteogenesis Imperfecta, Type VI 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0242383
Disease:
Age related macular degeneration 		0.060 GeneticVariation BEFREE Since it is well known that a single nucleotide polymorphism and resultant amino acid change often alters the activity or expression level of the target protein, we would like to propose here a novel hypothesis that the Met72Thr polymorphism (T/C polymorphism) of PEDF gene may be a genetic marker for ARMD. 15823717 2005
dbSNP: rs12150053
rs12150053
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.020 GeneticVariation BEFREE Based on case-control studies, rs12150053 and rs12948385, but not rs9913583 and rs1136287, were significantly associated with DR. A logistic regression analysis revealed that the TC or CC genotype of rs12150053 was a significant risk factor for DR (odds ratio 2.40, p=0.0004). 17658465 2007
dbSNP: rs12948385
rs12948385
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.020 GeneticVariation BEFREE The GA or AA genotype of rs12948385 was also a significant risk factor for DR. 17658465 2007
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.010 GeneticVariation BEFREE Based on case-control studies, rs12150053 and rs12948385, but not rs9913583 and rs1136287, were significantly associated with DR. A logistic regression analysis revealed that the TC or CC genotype of rs12150053 was a significant risk factor for DR (odds ratio 2.40, p=0.0004). 17658465 2007
dbSNP: rs9913583
rs9913583
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.010 GeneticVariation BEFREE Based on case-control studies, rs12150053 and rs12948385, but not rs9913583 and rs1136287, were significantly associated with DR. A logistic regression analysis revealed that the TC or CC genotype of rs12150053 was a significant risk factor for DR (odds ratio 2.40, p=0.0004). 17658465 2007
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0242383
Disease:
Age related macular degeneration 		0.060 GeneticVariation BEFREE Our data suggest that the PEDF Met72Thr T allele may be a risk factor for wet AMD in the Taiwan Chinese population. 18226801 2008
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C3888896
Disease:
Wet age-related macular degeneration 		0.010 GeneticVariation BEFREE Pigment epithelium-derived factor gene Met72Thr polymorphism is associated with increased risk of wet age-related macular degeneration. 18226801 2008
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0242383
Disease:
Age related macular degeneration 		0.060 GeneticVariation BEFREE We report a lack of association between the PEDF Met72Thr variant and either neovascular AMD or PCV in a Japanese population. 19503741 2009
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C1504336
Disease:
Polypoidal choroidal vasculopathy 		0.020 GeneticVariation BEFREE We report a lack of association between the PEDF Met72Thr variant and either neovascular AMD or PCV in a Japanese population. 19503741 2009
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0017921
Disease:
Glycogen storage disease type II 		0.020 GeneticVariation BEFREE We report a lack of association between the PEDF Met72Thr variant and either neovascular AMD or PCV in a Japanese population. 19503741 2009
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0271084
Disease:
Exudative age-related macular degeneration 		0.020 GeneticVariation BEFREE Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. 19503741 2009
dbSNP: rs12150053
rs12150053
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.020 GeneticVariation BEFREE In addition, two other PEDF gene polymorphisms, -5736T>C (rs12150053) and -5304C>T (rs12948385), have been associated with increased risk of diabetic retinopathy, but have not yet been studied among patients with exudative AMD. 19223990 2009
dbSNP: rs12948385
rs12948385
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.020 GeneticVariation BEFREE In addition, two other PEDF gene polymorphisms, -5736T>C (rs12150053) and -5304C>T (rs12948385), have been associated with increased risk of diabetic retinopathy, but have not yet been studied among patients with exudative AMD. 19223990 2009
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0242383
Disease:
Age related macular degeneration 		0.060 GeneticVariation BEFREE There was evidence to suggest that heterozygotes for rs1136287 (C/T) exerted a protective effect against exudative AMD (additive model, OR 0.59, CI 0.36-0.95, p = 0.03), but none of the p-values in the other genotype groups were statistically significant. 21174599 2011
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0017921
Disease:
Glycogen storage disease type II 		0.020 GeneticVariation BEFREE There was evidence to suggest that heterozygotes for rs1136287 (C/T) exerted a protective effect against exudative AMD (additive model, OR 0.59, CI 0.36-0.95, p = 0.03), but none of the p-values in the other genotype groups were statistically significant. 21174599 2011
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE We analyzed the polymorphisms rs846910, rs1205, rs1501299, rs1801282, rs1800497, rs757110 and rs1136287 in these candidate genes, for association with obesity and metabolic traits in a young Mexican-American population from south Texas. 22056417 2011
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0271084
Disease:
Exudative age-related macular degeneration 		0.020 GeneticVariation BEFREE No evidence was found to support a role for the Met72Thr variant in susceptibility to either PCV or nAMD in a Han Chinese cohort. 22029535 2012
dbSNP: rs1136287
rs1136287
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C1504336
Disease:
Polypoidal choroidal vasculopathy 		0.020 GeneticVariation BEFREE No evidence was found to support a role for the Met72Thr variant in susceptibility to either PCV or nAMD in a Han Chinese cohort. 22029535 2012
dbSNP: rs12603825
rs12603825
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0027092
Disease:
Myopia 		0.010 GeneticVariation BEFREE We demonstrated a marginal association of the PEDF SNP, rs12603825, with myopic CNV in extremely myopic patients. 23722394 2013